Journal article

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients

Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer

EPILEPSIA | WILEY | Published : 2017

Abstract

OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping. Additional subjects were included who approached us after the family support group brought attention to our research via social media. Inclusion criteria were genetic testing results..

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University of Melbourne Researchers

Grants

Awarded by Australian National Health and Medical Research Council (NHMRC) Program Grant


Awarded by NHMRC Practitioner Fellowship


Funding Acknowledgements

This study was supported by funding from an Australian National Health and Medical Research Council (NHMRC) Program Grant (628952); I. Scheffer also has a NHMRC Practitioner Fellowship (1006110). The authors thank the individuals with KdVS and their families for their enthusiastic participation in, and support of, this research project. We also acknowledge the family support groups, Kool Kid Alliance and Supporting Families with Koolen-de Vries Syndrome, who raised awareness of this research.